H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase [Homo sapiens (human)] - Gene

Summary

Official Symbol: H6PDprovided by HGNC
Official Full Name: hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenaseprovided by HGNC
Primary source: HGNC:HGNC:4795
See related: Ensembl:ENSG00000049239 MIM:138090; AllianceGenome:HGNC:4795
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GDH; G6PDH; H6PDH; CORTRD1
Summary: There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in ovary (RPKM 12.8), skin (RPKM 11.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.22

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (9234774..9271337)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (8769418..8805954)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (9294833..9331396)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Tumor-suppressive microRNA-551b-3p targets H6PD to inhibit gallbladder cancer progression.
Title: Tumor-suppressive microRNA-551b-3p targets H6PD to inhibit gallbladder cancer progression.
Knockdown of H6PD resulted in an increase in ER lumen oxidation, and down-regulation of many components of the unfolded protein response, including the transcription factors activating transcription factor-4, activating transcription factor-6, split X-box binding protein-1, and CCAAT/enhancer binding protein homologous protein.
Title: Hexose-6-phosphate dehydrogenase controls cancer cell proliferation and migration through pleiotropic effects on the unfolded-protein response, calcium homeostasis, and redox balance.
Data indicate the tetramer as the most active form of glucose-6-phosphate dehydrogenase (G6PDH).
Title: Mutations in the tetramer interface of human glucose-6-phosphate dehydrogenase reveals kinetic differences between oligomeric states.
cortisol reduces glucose-6-phosphate (G6P) flux through H6PDH by increasing luminal NADPH, thereby allowing more G6P for hydrolysis via G6Pase
Title: Cortisol promotes endoplasmic glucose production via pyridine nucleotide redox.
Inhibition of glucose-6-phosphate dehydrogenase sensitizes cisplatin-resistant cells to death.
Title: Inhibition of glucose-6-phosphate dehydrogenase sensitizes cisplatin-resistant cells to death.
The G allele of rs6688832 in H6PD might exert potential genetic protective role against the development of PCOS, especially in overweight women. PCOS patients with AG genotype of rs6688832 might confer risk to the phenotype of hyperandrogenemia of PCOS.
Title: Association Analysis between the Polymorphisms of HSD11B1 and H6PD and Risk of Polycystic Ovary Syndrome in Chinese Population.
The aim of the work was to investigate the expression of HSD11B1, HSD11B2, H6PDH, and glucocorticoids receptor (GR) mRNA in subcutaneous adipose tissue (SAT) from obese women with or without polycystic ovary syndrome.
Title: The expression of 11β-HSDs, GR, and H6PDH in subcutaneous adipose tissue from polycystic ovary syndrome subjects.
Cytoplasmic Mg2+ regulates glucose 6-phosphate utilization by reticular H6PD.
Title: Reduced cellular Mg²⁺ content enhances hexose 6-phosphate dehydrogenase activity and expression in HepG2 and HL-60 cells.
GR and p300 are involved in the induction of H6PD by cortisol in human amnion fibroblasts
Title: Involvement of GR and p300 in the induction of H6PD by cortisol in human amnion fibroblasts.
Polymorphisms in the H6PD gene may not be associated with type 2 diabetes and the metabolic syndrome.
Title: Relationship of 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase gene polymorphisms with metabolic syndrome and type 2 diabetes.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cortisone reductase deficiency 1 MedGen: C3551716 OMIM: 604931 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat 47-59 peptide upregulates gene expression of hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase; H6PD) in U-937 macrophages	PubMed
Vif	vif	HIV-1 Vif downregulates the expression of hexose-6-phosphate dehydrogenase (H6PD, glucose 1-dehydrogenase) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S1425 (e-PCR)
- UniSTS:149621

SHGC-74170 (e-PCR)
- UniSTS:69006

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 6-phosphogluconolactonase activity	ISS Inferred from Sequence or Structural Similarity more info
enables NADP binding	IEA Inferred from Electronic Annotation more info
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables glucose 1-dehydrogenase (NAD+) activity	IEA Inferred from Electronic Annotation more info
enables glucose 1-dehydrogenase (NADP+) activity	IEA Inferred from Electronic Annotation more info
enables glucose-6-phosphate dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glucose-6-phosphate dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in glucose metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in pentose-phosphate shunt, oxidative branch	IBA Inferred from Biological aspect of Ancestor more info
involved_in pentose-phosphate shunt, oxidative branch	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cortisol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to alcohol	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient levels	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum lumen	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: GDH/6PGL endoplasmic bifunctional protein

Names: 6-phosphogluconolactonase; G6PD, H form; glucose 1- dehydrogenase; glucose dehydrogenase; glucose dehyrogenase; glucose-6-phosphate dehydrogenase, salivary

NP_001269516.1

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

NP_004276.2

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

XP_005263597.1

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

XP_006711115.1

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

XP_016858354.1

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

XP_016858355.1

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

XP_047290958.1

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

XP_047290959.1

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

XP_047290961.1

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

XP_054195686.1

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

XP_054195687.1

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

XP_054195688.1

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

XP_054195689.1

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

XP_054195690.1

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012218.1 RefSeqGene

Range

4971..41534

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001282587.2 → NP_001269516.1 GDH/6PGL endoplasmic bifunctional protein isoform 1 precursor

See identical proteins and their annotated locations for NP_001269516.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

BM974986, Z98044

Consensus CDS

CCDS72697.1

UniProtKB/TrEMBL

R4GMU1

Related

ENSP00000473348.1, ENST00000602477.1

Conserved Domains (4) summary

COG0364
Location:33 → 515

Zwf; Glucose-6-phosphate 1-dehydrogenase [Carbohydrate transport and metabolism]

TIGR01198
Location:567 → 802

pgl; 6-phosphogluconolactonase

pfam00479
Location:40 → 222

G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain

pfam02781
Location:236 → 515

G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain
NM_004285.4 → NP_004276.2 GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor

See identical proteins and their annotated locations for NP_004276.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate 5' most exon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AJ012590, BC081559, Z98044

Consensus CDS

CCDS101.1

UniProtKB/Swiss-Prot

O95479, Q4TT33, Q66I35, Q68DT3, R4GMU1

Related

ENSP00000366620.2, ENST00000377403.7

Conserved Domains (4) summary

COG0364
Location:22 → 504

Zwf; Glucose-6-phosphate 1-dehydrogenase [Carbohydrate transport and metabolism]

TIGR01198
Location:556 → 791

pgl; 6-phosphogluconolactonase

pfam00479
Location:29 → 211

G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain

pfam02781
Location:225 → 504

G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

9234774..9271337

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047435002.1 → XP_047290958.1 GDH/6PGL endoplasmic bifunctional protein isoform X1
XM_006711052.5 → XP_006711115.1 GDH/6PGL endoplasmic bifunctional protein isoform X4

See identical proteins and their annotated locations for XP_006711115.1

UniProtKB/Swiss-Prot

O95479, Q4TT33, Q66I35, Q68DT3, R4GMU1

Conserved Domains (4) summary

COG0364
Location:22 → 504

Zwf; Glucose-6-phosphate 1-dehydrogenase [Carbohydrate transport and metabolism]

TIGR01198
Location:556 → 791

pgl; 6-phosphogluconolactonase

pfam00479
Location:29 → 211

G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain

pfam02781
Location:225 → 504

G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain
XM_017002865.3 → XP_016858354.1 GDH/6PGL endoplasmic bifunctional protein isoform X4

UniProtKB/Swiss-Prot

O95479, Q4TT33, Q66I35, Q68DT3, R4GMU1

Conserved Domains (4) summary

COG0364
Location:22 → 504

Zwf; Glucose-6-phosphate 1-dehydrogenase [Carbohydrate transport and metabolism]

TIGR01198
Location:556 → 791

pgl; 6-phosphogluconolactonase

pfam00479
Location:29 → 211

G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain

pfam02781
Location:225 → 504

G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain
XM_047435005.1 → XP_047290961.1 GDH/6PGL endoplasmic bifunctional protein isoform X4

UniProtKB/Swiss-Prot

O95479, Q4TT33, Q66I35, Q68DT3, R4GMU1
XM_005263540.6 → XP_005263597.1 GDH/6PGL endoplasmic bifunctional protein isoform X2

Conserved Domains (4) summary

COG0364
Location:31 → 513

Zwf; Glucose-6-phosphate 1-dehydrogenase [Carbohydrate transport and metabolism]

TIGR01198
Location:565 → 800

pgl; 6-phosphogluconolactonase

pfam00479
Location:38 → 220

G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain

pfam02781
Location:234 → 513

G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain
XM_047435003.1 → XP_047290959.1 GDH/6PGL endoplasmic bifunctional protein isoform X3
XM_017002866.3 → XP_016858355.1 GDH/6PGL endoplasmic bifunctional protein isoform X5

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

8769418..8805954

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054339711.1 → XP_054195686.1 GDH/6PGL endoplasmic bifunctional protein isoform X1
XM_054339713.1 → XP_054195688.1 GDH/6PGL endoplasmic bifunctional protein isoform X4
XM_054339714.1 → XP_054195689.1 GDH/6PGL endoplasmic bifunctional protein isoform X4
XM_054339712.1 → XP_054195687.1 GDH/6PGL endoplasmic bifunctional protein isoform X2
XM_054339715.1 → XP_054195690.1 GDH/6PGL endoplasmic bifunctional protein isoform X5